Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
X-112021827-G-A p.Pro666Ser missense AMOT 1 81792 1.22261E-5 40896 0 1.25869E-4
X-112021888-C-T p.Gly645Gly synonymous AMOT 1 80588 1.24088E-5 40294 0 NA
X-112021890-C-G p.Gly645Arg missense+splice_region AMOT 2 80336 2.48954E-5 40168 0 1.13395E-5
X-112021892-T-C p.Asp644Gly missense+splice_region AMOT 2 80280 2.49128E-5 40140 1 NA
X-112022254-G-T p.Pro634Gln missense AMOT 1 79582 1.25657E-5 39791 0 NA
X-112022266-C-T p.Arg630His missense AMOT 1 79532 1.25736E-5 39766 0 0.00125
X-112022267-G-A p.Arg630Cys missense AMOT 2 79542 2.51439E-5 39771 0 3.43556E-5
X-112022270-G-A p.His629Tyr missense AMOT 2 79544 2.51433E-5 39772 0 2.28833E-5
X-112022282-C-T p.Gly625Ser missense AMOT 2 79382 2.51946E-5 39691 0 4.6307E-5
X-112022283-G-A p.Thr624Thr synonymous AMOT 5 79376 6.29913E-5 39688 1 1.85219E-4
X-112022284-G-A p.Thr624Ile missense AMOT 1 79406 1.25935E-5 39703 0 NA
X-112022287-G-A p.Ala623Val missense AMOT 61 79356 7.68688E-4 39678 13 0.00157225
X-112022289-T-C p.Pro622Pro synonymous AMOT 2 79334 2.52099E-5 39667 0 4.62642E-5
X-112022297-C-CAGG p.Pro619dup conservative_inframe_insertion AMOT 5260 79134 0.0664695 39567 1397 0.0681004
X-112022318-C-G p.Val613Leu missense AMOT 4 78436 5.0997E-5 39218 1 1.35993E-4
X-112022327-T-C p.Thr610Ala missense AMOT 2 77968 2.56515E-5 38984 0 2.28425E-5
X-112022338-G-A p.Ala606Val missense AMOT 3 77450 3.87347E-5 38725 0 NA
X-112022358-C-CACAGTT p.Pro599_Ala600insThrVal disruptive_inframe_insertion AMOT 2 76258 2.62268E-5 38129 1 NA
X-112022358-C-T p.Pro599Pro synonymous AMOT 1 76258 1.31134E-5 38129 0 NA
X-112022359-G-A p.Pro599Leu missense AMOT 2 76094 2.62833E-5 38047 0 6.9979E-4
X-112022390-G-C p.Pro589Ala missense AMOT 1 73666 1.35748E-5 36833 0 NA
X-112022392-G-A p.Ala588Val missense AMOT 1 73424 1.36195E-5 36712 0 NA
X-112022394-A-C p.Ser587Ser synonymous AMOT 17 73298 2.3193E-4 36649 3 2.77562E-5
X-112022407-G-A p.Ala583Val missense AMOT 1 72192 1.38519E-5 36096 0 5.61662E-6
X-112022413-GGAGCTGGAACCGGAACCA-G p.Leu575_Ala580del disruptive_inframe_deletion AMOT 4 72038 5.55262E-5 36019 1 1.68561E-5
X-112022416-G-C p.Ala580Gly missense AMOT 16 71880 2.22593E-4 35940 5 1.6931E-4
X-112022425-G-A p.Pro577Leu missense AMOT 113 71238 0.00158623 35619 25 0.00138889
X-112022426-G-C p.Pro577Ala missense AMOT 2 71256 2.80678E-5 35628 0 1.45613E-5
X-112022428-A-G p.Val576Ala missense AMOT 1 71144 1.4056E-5 35572 0 NA
X-112022429-C-T p.Val576Ile missense AMOT 2 71282 2.80576E-5 35641 0 2.9808E-5
X-112022430-C-G p.Leu575Leu synonymous AMOT 1 71272 1.40308E-5 35636 0 5.76286E-6
X-112022431-AGAGCCGGAGCTGGAACTG-A p.Pro569_Ala574del disruptive_inframe_deletion AMOT 1 71182 1.40485E-5 35591 0 1.73121E-5
X-112022436-C-T p.Pro573Pro synonymous AMOT 41 70766 5.79374E-4 35383 11 0.00187219
X-112022437-G-A p.Pro573Leu missense AMOT 20 70700 2.82885E-4 35350 5 2.0518E-4
X-112022455-G-A p.Pro567Leu missense AMOT 2 70208 2.84868E-5 35104 0 0.00347464
X-112022464-G-A p.Pro564Leu missense AMOT 3 70216 4.27253E-5 35108 1 NA
X-112022465-G-A p.Pro564Ser missense AMOT 1 70168 1.42515E-5 35084 0 4.5255E-5
X-112022476-ACAG-A p.Ala559del disruptive_inframe_deletion AMOT 35 68718 5.09328E-4 34359 1 0.0486212
X-112022476-A-ACAG p.Ala559dup conservative_inframe_insertion AMOT 6 70316 8.53291E-5 35158 2 1.29039E-4
X-112022498-A-C p.Ser553Ala missense AMOT 6 71206 8.42626E-5 35603 2 7.58294E-5
X-112022507-C-T p.Val550Ile missense AMOT 2 71654 2.79119E-5 35827 0 3.16201E-5
X-112022520-G-C p.Ala545Ala synonymous AMOT 2 72640 2.7533E-5 36320 1 1.58747E-4
X-112022520-G-A p.Ala545Ala synonymous AMOT 1 72640 1.37665E-5 36320 0 8.28576E-6
X-112022522-C-A p.Ala545Ser missense AMOT 1 72748 1.37461E-5 36374 0 NA
X-112022523-A-C p.Val544Val synonymous AMOT 3 72870 4.11692E-5 36435 1 2.4787E-5
X-112022534-C-T p.Ala541Thr missense AMOT 1 73528 1.36003E-5 36764 0 NA
X-112022543-T-C p.Ile538Val missense AMOT 1 74252 1.34677E-5 37126 0 NA
X-112022549-C-A p.Gly536Cys missense AMOT 2 74694 2.67759E-5 37347 1 0.00435414
X-112022558-C-A p.Ala533Ser missense AMOT 1 75244 1.32901E-5 37622 0 NA
X-112022560-G-A p.Pro532Leu missense AMOT 1 75618 1.32244E-5 37809 0 NA
X-112022570-C-A p.Ala529Ser missense AMOT 1 76054 1.31486E-5 38027 0 NA
X-112022585-C-T p.Ala524Thr missense AMOT 4 76720 5.21376E-5 38360 0 1.74145E-5
X-112022597-G-C p.Pro520Ala missense AMOT 2 77216 2.59014E-5 38608 1 NA
X-112022599-G-A p.Ser519Phe missense AMOT 2 76962 2.59869E-5 38481 1 1.8229E-4
X-112022601-CGGGGCAGCAGCAGCAGCT-C p.Ala513_Pro518del disruptive_inframe_deletion AMOT 1 76844 1.30134E-5 38422 0 8.75457E-6
X-112022603-G-GGGCAGCAGCAGCAGCTGGAGCAGCAGC p.Ala517_Pro518insAlaAlaAlaProAlaAlaAlaAlaAla conservative_inframe_insertion AMOT 11 77178 1.42528E-4 38589 4 6.96543E-5
X-112022603-G-GGGCAGCAGCAGCAGCTGGAGC p.Ala517_Pro518insAlaProAlaAlaAlaAlaAla conservative_inframe_insertion AMOT 1 77178 1.29571E-5 38589 0 8.70678E-6
X-112022604-G-GGCAGCAGCAGCAGCTGGAGCAGCA p.Ala517_Pro518insAlaAlaProAlaAlaAlaAlaAla disruptive_inframe_insertion AMOT 1 77208 1.2952E-5 38604 0 NA
X-112022604-GGCAGCAGCAGCAGCTGGA-G p.Pro512_Ala517del disruptive_inframe_deletion AMOT 5 77208 6.47601E-5 38604 2 5.2538E-5
X-112022604-GGCA-G p.Ala517del disruptive_inframe_deletion AMOT 1 77170 1.29584E-5 38585 0 4.59707E-5
X-112022604-G-GGCAGCAGCAGCAGCTGGAGCAGCAGCA p.Ala517_Pro518insAlaAlaAlaProAlaAlaAlaAlaAla disruptive_inframe_insertion AMOT 2 77208 2.59041E-5 38604 1 NA
X-112022604-G-GGCAGCAGCAGCAGCTGGAGCA p.Ala517_Pro518insAlaProAlaAlaAlaAlaAla disruptive_inframe_insertion AMOT 2 77208 2.59041E-5 38604 1 NA
X-112022617-GCTGGAGCAGCAGCAGCAGCAACAGCAA-G p.Val504_Pro512del disruptive_inframe_deletion AMOT 1448 77312 0.0187293 38656 352 0.0255983
X-112022619-T-C p.Pro512Pro synonymous AMOT 3 77034 3.89438E-5 38517 1 NA
X-112022621-GAGC-G p.Ala511del conservative_inframe_deletion AMOT 6 76948 7.79747E-5 38474 0 NA
X-112022625-A-G p.Ala510Ala synonymous AMOT 3 77002 3.896E-5 38501 1 1.68289E-5
X-112022627-C-CAGCAGCAGCTGG p.Ala509_Ala510insProAlaAlaAla conservative_inframe_insertion AMOT 2 76902 2.60071E-5 38451 1 6.11808E-5
X-112022638-A-G p.Val506Ala missense AMOT 2 77258 2.58873E-5 38629 1 0.0121951
X-112022640-A-G p.Ala505Ala synonymous AMOT 3 77378 3.87707E-5 38689 1 NA
X-112022662-A-G p.Met498Thr missense AMOT 1 78948 1.26666E-5 39474 0 NA
X-112022664-G-C p.Thr497Thr synonymous AMOT 2 79002 2.53158E-5 39501 1 4.55166E-5
X-112022669-T-TGGTGATGGTGGC p.Thr495_Thr496insAlaThrIleThr conservative_inframe_insertion AMOT 1 78892 1.26756E-5 39446 0 NA
X-112022670-G-A p.Thr495Thr synonymous AMOT 1 79104 1.26416E-5 39552 0 NA
X-112022670-GGTGATGGTGGCAGCAGTGGCA-G p.Ala489_Thr495del disruptive_inframe_deletion AMOT 3 79102 3.79257E-5 39551 1 3.55796E-4
X-112022678-TGGCAGCAGTGGCAGTGATGGC-T p.Ala486_Ala492del conservative_inframe_deletion AMOT 25 79308 3.15227E-4 39654 4 3.97206E-4
X-112022687-T-C p.Thr490Ala missense AMOT 243 79504 0.00305645 39752 47 0.00508778
X-112022688-G-GGCAGTGATGGCGGCA p.Ala489_Thr490insAlaAlaIleThrAla disruptive_inframe_insertion AMOT 26 79588 3.26682E-4 39794 4 4.56433E-4
X-112022688-G-A p.Ala489Ala synonymous AMOT 2 79592 2.51282E-5 39796 1 NA
X-112022695-ATGGCGGCAGCAG-A p.Thr483_Ala486del disruptive_inframe_deletion AMOT 8 79546 1.00571E-4 39773 1 1.4733E-4
X-112022699-C-T p.Ala486Thr missense AMOT 22 79444 2.76925E-4 39722 6 6.36988E-4
X-112022709-G-A p.Ala482Ala synonymous AMOT 1 79616 1.25603E-5 39808 0 NA
X-112022724-T-C p.Pro477Pro synonymous AMOT 2 79484 2.51623E-5 39742 1 4.60236E-5
X-112022726-G-C p.Pro477Ala missense AMOT 7 79592 8.79485E-5 39796 1 4.59306E-5
X-112022750-C-T p.Val469Ile missense AMOT 4 80694 4.957E-5 40347 1 1.64358E-5
X-112022757-A-C p.Thr466Thr synonymous AMOT 2 80906 2.472E-5 40453 0 1.19427E-5
X-112022773-G-A p.Thr461Met missense AMOT 1 81030 1.23411E-5 40515 0 2.3115E-5
X-112022775-C-T p.Gly460Gly synonymous AMOT 3 81110 3.69868E-5 40555 1 NA
X-112022780-G-A p.Arg459Cys missense AMOT 2 81068 2.46706E-5 40534 1 2.18204E-5
X-112022794-C-A p.Ser454Ile missense AMOT 1 80930 1.23564E-5 40465 0 NA
X-112022803-C-T p.Arg451Gln missense AMOT 2 80642 2.4801E-5 40321 1 1.63708E-5
X-112022826-C-T p.Ser443Ser synonymous AMOT 1 79466 1.2584E-5 39733 0 5.4581E-6
X-112022837-G-T p.Pro440Thr missense AMOT 1 78930 1.26695E-5 39465 0 NA
X-112022841-C-A p.Ser438Ser synonymous AMOT 1 78188 1.27897E-5 39094 0 4.74608E-5
X-112022842-G-A p.Ser438Leu missense AMOT 3 78130 3.83975E-5 39065 1 1.09276E-5
X-112022844-G-A p.Pro437Pro synonymous AMOT 1 77884 1.28396E-5 38942 0 NA
X-112022872-A-T p.Val428Asp missense AMOT 2 73214 2.73172E-5 36607 1 NA
X-112022881-G-T p.Ala425Asp missense AMOT 22 71496 3.0771E-4 35748 2 0.00112681
X-112022885-G-A p.Arg424Cys missense AMOT 1 70460 1.41924E-5 35230 0 1.1965E-5
X-112022894-C-T p.Gly421Arg missense AMOT 62 68726 9.02133E-4 34363 7 8.1468E-4
X-112022903-G-A p.Leu418Phe missense AMOT 4 67266 5.94654E-5 33633 1 3.26052E-4
X-112024110-T-C p.Asn594Ser missense AMOT 1 82830 1.20729E-5 41415 0 NA
X-112024138-C-T p.Asp408Asn missense AMOT 7 82982 8.43556E-5 41491 3 1.63595E-5
X-112024141-C-G p.Asp407His missense AMOT 1 82994 1.20491E-5 41497 0 3.42021E-5
X-112024157-G-T p.Ile401Ile synonymous AMOT 6664 82624 0.0806545 41312 1757 0.120654
X-112024157-G-C p.Ile401Met missense AMOT 1 82994 1.20491E-5 41497 0 NA
X-112024158-A-G p.Ile401Thr missense AMOT 1 82962 1.20537E-5 41481 0 1.63547E-5
X-112024159-T-TG p.Ile401fs frameshift AMOT 1 82962 1.20537E-5 41481 0 NA
X-112024160-G-A p.Pro400Pro synonymous AMOT 1 83018 1.20456E-5 41509 0 1.13969E-5
X-112024183-A-G p.Ser393Pro missense AMOT 2 82980 2.41022E-5 41490 0 NA
X-112024198-C-T p.Gly388Ser missense AMOT 1 82960 1.2054E-5 41480 0 1.13993E-5
X-112024208-A-G p.Asn384Asn synonymous AMOT 6 82930 7.23502E-5 41465 2 4.55705E-5
X-112024209-T-C p.Asn384Ser missense AMOT 5 82934 6.02889E-5 41467 2 4.90682E-5
X-112024220-C-T p.Met380Ile missense AMOT 19 82874 2.29264E-4 41437 6 1.37043E-4
X-112024239-C-T p.Arg374Gln missense AMOT 1 82712 1.20901E-5 41356 0 1.09088E-5
X-112024247-C-T p.Ser371Ser synonymous AMOT 216 82656 0.00261324 41328 42 0.0057487
X-112024248-GA-AT p.Ser371Met missense AMOT 1 82634 1.21016E-5 41317 0 NA
X-112024248-G-A p.Ser371Leu missense AMOT 2 82634 2.42031E-5 41317 1 4.36395E-5
X-112024249-A-T p.Ser371Thr missense AMOT 2 82640 2.42014E-5 41320 1 2.28141E-5
X-112024268-C-T p.Pro364Pro synonymous AMOT 5 82520 6.05914E-5 41260 0 4.58274E-5
X-112024284-C-T p.Arg359His missense AMOT 1 82424 1.21324E-5 41212 0 NA
X-112024312-C-T p.Asp350Asn missense AMOT 4 81942 4.8815E-5 40971 1 5.4581E-6
X-112024338-G-T p.Thr341Asn missense AMOT 2 80668 2.4793E-5 40334 0 5.47232E-6
X-112024354-C-T c.1014-8G>A splice_region AMOT 1 78860 1.26807E-5 39430 0 1.64968E-5
X-112025764-T-C c.1013+4A>G splice_region AMOT 2 83062 2.40784E-5 41531 1 3.41912E-5
X-112025772-C-T p.Gly337Ser missense AMOT 2 83058 2.40796E-5 41529 1 NA
X-112025789-C-T p.Arg331His missense AMOT 4 83098 4.81359E-5 41549 1 6.25E-4
X-112025795-T-C p.Asn329Ser missense AMOT 1 83130 1.20294E-5 41565 0 1.13986E-5
X-112025831-C-T p.Arg317His missense AMOT 1 83116 1.20314E-5 41558 0 1.14966E-5
X-112025832-G-A p.Arg317Cys missense AMOT 1 83128 1.20296E-5 41564 0 4.55436E-5
X-112025834-G-C p.Ala316Gly missense AMOT 1 83138 1.20282E-5 41569 0 5.45706E-6
X-112025849-T-C p.Asp311Gly missense AMOT 2 83138 2.40564E-5 41569 0 5.46684E-6
X-112025864-G-A p.Pro306Leu missense AMOT 1 83082 1.20363E-5 41541 0 NA
X-112025878-G-A p.Val301Val synonymous AMOT 1 83034 1.20433E-5 41517 0 2.34819E-5
X-112033813-T-A c.890+7A>T splice_region AMOT 1 81262 1.23059E-5 40631 0 1.26513E-5
X-112033830-C-T p.Ala294Thr missense AMOT 3 82462 3.63804E-5 41231 1 2.9269E-5
X-112033831-C-A p.Val293Val synonymous AMOT 1 82494 1.21221E-5 41247 0 NA
X-112033849-C-G p.Leu287Leu synonymous AMOT 1 82692 1.20931E-5 41346 0 2.36225E-5
X-112033873-C-T p.Glu279Glu synonymous AMOT 1 82826 1.20735E-5 41413 0 NA
X-112033930-C-T p.Glu260Glu synonymous AMOT 2 82586 2.42172E-5 41293 1 NA
X-112033944-G-A p.Arg256Trp missense AMOT 3 82466 3.63786E-5 41233 1 NA
X-112033948-G-A p.Leu254Leu synonymous AMOT 1 82446 1.21292E-5 41223 0 5.53033E-6
X-112033949-A-G p.Leu254Pro missense AMOT 1 82410 1.21345E-5 41205 0 5.539E-6
X-112033970-T-C p.Asn247Ser missense AMOT 2 82042 2.43778E-5 41021 1 1.36042E-4
X-112033984-G-A p.Asn242Asn synonymous AMOT 34 81436 4.17506E-4 40718 6 3.17173E-4
X-112034016-G-C c.700-6C>G splice_region AMOT 1 80044 1.24931E-5 40022 0 NA
X-112035055-C-T c.699+5G>A splice_region AMOT 2 82670 2.41926E-5 41335 1 NA
X-112035070-C-T p.Arg230Lys missense AMOT 1 82816 1.2075E-5 41408 0 NA
X-112035087-C-T p.Arg224Arg synonymous AMOT 2 82942 2.41132E-5 41471 1 NA
X-112035098-G-A p.Arg221* stop_gained AMOT 2 82948 2.41115E-5 41474 1 NA
X-112035153-T-C p.Val202Val synonymous AMOT 1 82976 1.20517E-5 41488 0 NA
X-112035158-G-C p.Leu201Val missense AMOT 3 83000 3.61446E-5 41500 1 NA
X-112035175-T-C p.Glu195Gly missense AMOT 1 82988 1.20499E-5 41494 0 5.45592E-6
X-112035184-T-C p.Asp192Gly missense AMOT 1 82958 1.20543E-5 41479 0 NA
X-112035188-C-G p.Val191Leu missense AMOT 1 82940 1.20569E-5 41470 0 2.28092E-5
X-112035188-C-T p.Val191Ile missense AMOT 2 82940 2.41138E-5 41470 0 4.57477E-5
X-112035189-G-A p.Tyr190Tyr synonymous AMOT 15 82950 1.80832E-4 41475 4 3.28195E-5
X-112035201-C-T p.Lys186Lys synonymous AMOT 1 82924 1.20592E-5 41462 0 1.14107E-5
X-112048187-C-T p.Lys179Lys synonymous AMOT 1 81658 1.22462E-5 40829 0 NA
X-112048207-C-A p.Ala173Ser missense AMOT 1 82352 1.2143E-5 41176 0 NA
X-112048214-C-A p.Leu170Leu synonymous AMOT 134 82464 0.00162495 41232 23 0.00377532
X-112048228-G-A p.Arg166* stop_gained AMOT 1 82574 1.21103E-5 41287 0 5.45601E-6
X-112048242-C-T p.Arg161Gln missense AMOT 5 82652 6.04946E-5 41326 1 4.58442E-5
X-112048256-A-G p.Asn156Asn synonymous AMOT 5 82606 6.05283E-5 41303 0 NA
X-112048257-T-C p.Asn156Ser missense AMOT 4 82612 4.84191E-5 41306 2 1.2537E-4
X-112048267-G-A p.Arg153Cys missense AMOT 2 82458 2.42548E-5 41229 1 4.58379E-5
X-112048284-G-A p.Ala147Val missense AMOT 41 82198 4.98796E-4 41099 9 0.00125
X-112048305-C-T p.Arg140His missense AMOT 1 81790 1.22264E-5 40895 0 5.71971E-5
X-112048306-G-A p.Arg140Cys missense AMOT 2 81746 2.4466E-5 40873 1 1.37282E-4
X-112048310-GCTTT-G p.Glu137fs frameshift AMOT 1 81570 1.22594E-5 40785 0 NA
X-112048312-T-G p.Ser138Arg missense AMOT 1 81568 1.22597E-5 40784 0 NA
X-112053130-A-C p.Phe132Cys missense AMOT 5 81116 6.16401E-5 40558 1 NA
X-112053138-C-T p.Ser129Ser synonymous AMOT 748 81288 0.00920185 40644 154 0.0162843
X-112053139-G-A p.Ser129Leu missense AMOT 2 81358 2.45827E-5 40679 1 1.14015E-5
X-112053168-C-T p.Glu119Glu synonymous AMOT 4 81626 4.9004E-5 40813 2 NA
X-112053172-T-C p.Tyr118Cys missense AMOT 2 81606 2.4508E-5 40803 1 5.47043E-6
X-112053172-T-A p.Tyr118Phe missense AMOT 1 81606 1.2254E-5 40803 0 NA
X-112053184-G-C p.Ala114Gly missense AMOT 1 81518 1.22672E-5 40759 0 NA
X-112053200-C-T p.Ala109Thr missense AMOT 5 81210 6.15688E-5 40605 1 NA
X-112053211-C-T p.Arg105His missense AMOT 2 80814 2.47482E-5 40407 1 1.64926E-5
X-112053212-G-A p.Arg105Cys missense+splice_region AMOT 18 80690 2.23076E-4 40345 2 6.26566E-4
X-112053220-A-G c.311-6T>C splice_region AMOT 1 80354 1.24449E-5 40177 0 NA
X-112054473-T-C c.310+4A>G splice_region AMOT 2 81270 2.46093E-5 40635 1 6.58375E-5
X-112054491-T-A p.Asn99Ile missense AMOT 2 81590 2.45128E-5 40795 0 NA
X-112054492-T-C p.Asn99Asp missense AMOT 1 81614 1.22528E-5 40807 0 0.00138217
X-112054509-C-T p.Arg93Gln missense AMOT 1 81728 1.22357E-5 40864 0 2.2805E-5
X-112054517-G-T p.Gly90Gly synonymous AMOT 1 81806 1.2224E-5 40903 0 NA
X-112054576-C-G p.Val71Leu missense AMOT 5 82100 6.09013E-5 41050 2 9.14704E-5
X-112054577-G-A p.Leu70Leu synonymous AMOT 4 82130 4.87033E-5 41065 0 2.19021E-5
X-112054595-C-T p.Ser64Ser synonymous AMOT 59 81870 7.20655E-4 40935 12 0.00105883
X-112054600-C-T p.Val63Ile missense AMOT 4 81730 4.89416E-5 40865 2 4.61553E-5
X-112054601-G-A p.Arg62Arg synonymous AMOT 3 81710 3.67152E-5 40855 1 5.52068E-6
X-112054603-G-A p.Arg62Cys missense AMOT 2 81816 2.44451E-5 40908 1 5.50567E-6
X-112054609-T-C p.Ile60Val missense AMOT 2 81808 2.44475E-5 40904 0 4.61191E-5
X-112054613-T-C p.Thr58Thr synonymous AMOT 118 81718 0.00144399 40859 21 0.00252734
X-112054626-A-G c.166-5T>C splice_region AMOT 2 81324 2.4593E-5 40662 1 NA
X-112058596-C-T p.Arg52Lys missense AMOT 7 82732 8.46105E-5 41366 1 4.78635E-5
X-112058599-G-C p.Ala51Gly missense AMOT 26 82726 3.14291E-4 41363 8 0.003125
X-112058604-C-T p.Lys49Lys synonymous AMOT 1 82766 1.20823E-5 41383 0 NA
X-112058608-T-G p.Glu48Ala missense AMOT 2 82768 2.41639E-5 41384 1 NA
X-112058611-T-C p.Tyr47Cys missense AMOT 6 82748 7.25093E-5 41374 1 6.25E-4
X-112058611-T-TCCCCAACAC p.Tyr47delinsCysValGlyAsp conservative_inframe_insertion AMOT 1 82748 1.20849E-5 41374 0 NA
X-112058612-A-G p.Tyr47His missense AMOT 3 82742 3.62573E-5 41371 1 NA
X-112058613-G-C p.Cys46Trp missense AMOT 1 82752 1.20843E-5 41376 0 NA
X-112058641-C-T p.Arg37Gln missense AMOT 2 82658 2.41961E-5 41329 1 1.09492E-5
X-112058642-G-A p.Arg37Trp missense AMOT 3 82640 3.6302E-5 41320 1 NA
X-112058644-T-C p.Asn36Ser missense AMOT 1 82630 1.21021E-5 41315 0 4.54731E-5
X-112058649-G-A p.Asp34Asp synonymous AMOT 9 82588 1.08975E-4 41294 1 6.88231E-4
X-112058651-C-T p.Asp34Asn missense AMOT 5 82592 6.05386E-5 41296 1 0.001875
X-112058655-G-C p.Leu32Leu synonymous AMOT 1 82574 1.21103E-5 41287 0 5.46245E-6
X-112058681-T-C p.Arg24Gly missense AMOT 1 82420 1.2133E-5 41210 0 1.13989E-5
X-112058698-G-C p.Pro18Arg missense AMOT 2 82440 2.42601E-5 41220 1 NA
X-112058722-G-C p.Ser10Cys missense AMOT 1 82368 1.21406E-5 41184 0 2.27902E-5
X-112058723-A-C p.Ser10Ala missense AMOT 2 82370 2.42807E-5 41185 0 5.4598E-6
X-112058738-G-C p.Gln5Glu missense AMOT 1 82332 1.21459E-5 41166 0 NA
X-112058743-C-A p.Arg3Leu missense AMOT 1 82310 1.21492E-5 41155 0 NA
X-112058744-G-A p.Arg3Trp missense AMOT 2 82290 2.43043E-5 41145 0 5.69937E-5
X-112058750-T-C p.Met1? start_lost AMOT 3 82298 3.64529E-5 41149 0 4.59918E-5
X-112058768-CTGGCTGCTGCTG-C p.Gln168_Pro171del conservative_inframe_deletion AMOT 3 82114 3.65346E-5 41057 1 1.14767E-5
X-112058771-G-A p.Pro171Ser missense AMOT 8 82048 9.75039E-5 41024 1 1.83259E-4
X-112058776-T-A p.Gln169Leu missense AMOT 5 81984 6.09875E-5 40992 2 NA
X-112058782-GGCT-G p.Gln166del disruptive_inframe_deletion AMOT 1 81826 1.22211E-5 40913 0 3.53062E-5
X-112058784-C-T p.Gln166Gln synonymous AMOT 3 81792 3.66784E-5 40896 1 1.18725E-5
X-112058799-T-C p.Gln161Gln synonymous AMOT 1 81542 1.22636E-5 40771 0 1.21841E-5
X-112058802-T-G p.Gln160His missense AMOT 8 81594 9.80464E-5 40797 2 8.82802E-5
X-112058805-G-C p.His159Gln missense AMOT 1 81632 1.22501E-5 40816 0 5.00538E-5
X-112058808-G-A p.His158His synonymous AMOT 1 81646 1.2248E-5 40823 0 4.60978E-5
X-112058808-G-GTGATGGTGA p.His156_His158dup disruptive_inframe_insertion AMOT 1 81644 1.22483E-5 40822 0 5.53385E-6
X-112058823-G-GTGCTGCTGCTGCTGTTGC p.Gln147_Gln152dup disruptive_inframe_insertion AMOT 3 81802 3.66739E-5 40901 1 4.61297E-5
X-112058823-G-GTGC p.Gln152dup disruptive_inframe_insertion AMOT 2 81802 2.44493E-5 40901 0 1.39817E-5
X-112058859-G-A p.Gly141Gly synonymous AMOT 4 82066 4.87413E-5 41033 1 9.21829E-5
X-112058860-C-A p.Gly141Val missense AMOT 2 82044 2.43772E-5 41022 1 NA
X-112058861-C-A p.Gly141Cys missense AMOT 1 82078 1.21835E-5 41039 0 NA
X-112058866-T-A p.Gln139Leu missense AMOT 2 82048 2.4376E-5 41024 1 1.30964E-5
X-112058867-G-C p.Gln139Glu missense AMOT 3 82060 3.65586E-5 41030 1 NA
X-112058873-G-A p.Leu137Phe missense AMOT 1 82022 1.21919E-5 41011 0 6.92109E-6
X-112058875-C-T p.Arg136His missense AMOT 6 81994 7.31761E-5 40997 2 1.46434E-4
X-112058877-G-A p.Tyr135Tyr synonymous AMOT 1 82006 1.21942E-5 41003 0 NA
X-112058882-G-A p.His134Tyr missense AMOT 3 81998 3.65863E-5 40999 1 NA
X-112058899-T-G p.Gln128Pro missense AMOT 1 81904 1.22094E-5 40952 0 7.87222E-6
X-112058909-G-C p.Leu125Val missense AMOT 1 81844 1.22184E-5 40922 0 NA
X-112058915-G-T p.His123Asn missense AMOT 2 81800 2.44499E-5 40900 1 NA
X-112058916-C-G p.Gln122His missense AMOT 6 81784 7.3364E-5 40892 2 1.67583E-5
X-112058922-C-T p.Pro120Pro synonymous AMOT 10 81598 1.22552E-4 40799 3 2.32105E-4
X-112058949-T-C p.Gly111Gly synonymous AMOT 1 81374 1.22889E-5 40687 0 4.64209E-5
X-112058984-A-G p.Ser100Pro missense AMOT 1 81052 1.23378E-5 40526 0 8.73385E-6
X-112058989-C-G p.Arg98Thr missense AMOT 1 81016 1.23432E-5 40508 0 NA
X-112058997-T-G p.Pro95Pro synonymous AMOT 1 80906 1.236E-5 40453 0 NA
X-112059006-T-C p.Gln92Gln synonymous AMOT 1 80800 1.23762E-5 40400 0 NA
X-112059015-G-C p.Pro89Pro synonymous AMOT 2 80706 2.47813E-5 40353 0 NA
X-112059017-G-A p.Pro89Ser missense AMOT 6 80654 7.43918E-5 40327 1 2.72401E-4
X-112059021-G-C p.Ser87Ser synonymous AMOT 1 80580 1.241E-5 40290 0 8.79515E-6
X-112059023-A-AC p.Ser87fs frameshift AMOT 1 80526 1.24183E-5 40263 0 NA
X-112059030-A-G p.Ser84Ser synonymous AMOT 434 80466 0.00539358 40233 82 0.0107807
X-112059033-G-T p.Thr83Thr synonymous AMOT 3 80446 3.72921E-5 40223 0 0.0013439
X-112059035-T-A p.Thr83Ser missense AMOT 1 80372 1.24421E-5 40186 0 8.81469E-6
X-112059050-G-A p.Pro78Ser missense AMOT 1 80188 1.24707E-5 40094 0 2.65355E-5
X-112059069-C-T p.Arg71Arg synonymous AMOT 2 79516 2.51522E-5 39758 1 7.32493E-5
X-112059072-G-T p.Ala70Ala synonymous AMOT 1 79430 1.25897E-5 39715 0 NA
X-112059073-G-T p.Ala70Asp missense AMOT 4 79376 5.03931E-5 39688 2 NA
X-112059073-G-C p.Ala70Gly missense AMOT 1 79374 1.25986E-5 39687 0 NA
X-112059075-TGAC-T p.Ser69del disruptive_inframe_deletion AMOT 1 79340 1.2604E-5 39670 0 NA
X-112059081-T-C p.Pro67Pro synonymous AMOT 2 79092 2.5287E-5 39546 1 8.94438E-6
X-112059097-T-G p.Gln62Pro missense AMOT 2 77952 2.56568E-5 38976 1 8.34237E-5
X-112059099-C-T p.Ala61Ala synonymous AMOT 1 77600 1.28866E-5 38800 0 NA
X-112065522-A-G p.Leu46Pro missense AMOT 1 80850 1.23686E-5 40425 0 NA
X-112065535-T-G p.Thr42Pro missense AMOT 1 81014 1.23435E-5 40507 0 1.25013E-5
X-112065538-T-C p.Arg41Gly missense AMOT 2 81020 2.46853E-5 40510 0 NA
X-112065558-T-A p.His34Leu missense AMOT 2 81020 2.46853E-5 40510 0 4.56371E-5
X-112065567-T-C p.Tyr31Cys missense AMOT 1 81080 1.23335E-5 40540 0 4.56017E-5
X-112065573-T-C p.His29Arg missense AMOT 7 81014 8.64048E-5 40507 2 1.37024E-4
X-112065588-G-C p.Pro24Arg missense AMOT 1 80968 1.23506E-5 40484 0 9.33027E-6
X-112065605-T-C p.Gln18Gln synonymous AMOT 1 80924 1.23573E-5 40462 0 1.80445E-5
X-112065625-A-T p.Phe12Ile missense AMOT 4 80934 4.9423E-5 40467 2 NA
X-112065655-C-T p.Glu2Lys missense AMOT 6 80978 7.40942E-5 40489 2 3.52578E-5
X-112065661-C-T p.Gly232Ser missense AMOT 7 81028 8.63899E-5 40514 1 6.92089E-5
X-112065687-G-A p.Pro223Leu missense AMOT 1 81208 1.23141E-5 40604 0 NA
X-112065688-G-A p.Pro223Ser missense AMOT 2 81164 2.46415E-5 40582 0 1.35777E-4
X-112065697-C-T p.Ala220Thr missense AMOT 1 81214 1.23131E-5 40607 0 2.02881E-4
X-112065697-C-A p.Ala220Ser missense AMOT 5 81214 6.15657E-5 40607 1 7.43897E-4
X-112065770-G-A p.Thr195Thr synonymous AMOT 2 80378 2.48824E-5 40189 0 NA
X-112065894-G-C p.Pro154Arg missense AMOT 1 81338 1.22944E-5 40669 0 NA
X-112065903-C-T p.Arg151Gln missense AMOT 17 81402 2.0884E-4 40701 4 0.00151057
X-112065904-G-A p.Arg151Trp missense AMOT 4 81428 4.91232E-5 40714 0 6.1717E-5
X-112065907-G-C p.Gln150Glu missense AMOT 1 81494 1.22708E-5 40747 0 NA
X-112065918-C-T p.Arg146His missense AMOT 2 81550 2.45248E-5 40775 0 1.8607E-4
X-112065919-G-A p.Arg146Cys missense AMOT 1 81574 1.22588E-5 40787 0 6.25E-4
X-112065919-G-C p.Arg146Gly missense AMOT 1 81574 1.22588E-5 40787 0 NA
X-112065992-G-T p.Gly121Gly synonymous AMOT 35 81870 4.27507E-4 40935 10 0.0015873
X-112066024-C-A p.Glu111* stop_gained AMOT 2 81652 2.44942E-5 40826 1 NA
X-112066034-C-T p.Pro107Pro synonymous AMOT 7 81476 8.59149E-5 40738 1 3.75117E-4
X-112066039-G-C p.Leu106Val missense AMOT 3 81434 3.68397E-5 40717 1 NA
X-112066055-C-T p.Met100Ile missense AMOT 1 81318 1.22974E-5 40659 0 NA
X-112066059-C-T p.Arg99Gln missense AMOT 1 81260 1.23062E-5 40630 0 6.17627E-5
X-112066063-G-A p.Pro98Ser missense AMOT 3 81254 3.69213E-5 40627 1 8.6063E-6
X-112066070-C-T p.Gln95Gln synonymous AMOT 1 81256 1.23068E-5 40628 0 NA
X-112066121-T-C p.Gln78Gln synonymous AMOT 1 80944 1.23542E-5 40472 0 NA
X-112066143-A-G p.Leu71Pro missense AMOT 1 80552 1.24143E-5 40276 0 3.641E-4
X-112066144-G-A p.Leu71Phe missense AMOT 1 80510 1.24208E-5 40255 0 NA
X-112066173-A-G p.Val61Ala missense AMOT 2 80126 2.49607E-5 40063 1 NA
X-112066185-G-A p.Pro57Leu missense AMOT 1 80014 1.24978E-5 40007 0 8.6887E-6
X-112066193-G-A p.Asn54Asn synonymous AMOT 1 80008 1.24988E-5 40004 0 8.69512E-6
X-112066203-C-A p.Gly51Val missense AMOT 3 80018 3.74916E-5 40009 1 8.69369E-6
X-112066216-G-A p.Pro47Ser missense AMOT 5 80134 6.23955E-5 40067 2 NA
X-112066238-C-G p.Gln39His missense AMOT 4 79804 5.01228E-5 39902 0 1.37931E-4
X-112066241-G-C p.His38Gln missense AMOT 1 79862 1.25216E-5 39931 0 NA
X-112066241-G-T p.His38Gln missense AMOT 2 79862 2.50432E-5 39931 0 8.70769E-6
X-112066261-G-A p.Arg32Cys missense AMOT 2 79496 2.51585E-5 39748 1 8.69996E-6
X-112066270-T-A p.Ser29Cys missense AMOT 1 79272 1.26148E-5 39636 0 6.38407E-5
X-112066275-T-C p.Asn27Ser missense AMOT 1 79140 1.26358E-5 39570 0 8.69074E-6
X-112066316-C-T p.Thr13Thr synonymous AMOT 10 75562 1.32342E-4 37781 3 0.0025
X-112066317-G-A p.Thr13Met missense AMOT 1 75352 1.3271E-5 37676 0 7.43439E-5
X-112066345-A-C p.Ser4Ala missense AMOT 2 70518 2.83616E-5 35259 1 1.93849E-5
X-112066421-G-A n.459-5C>T splice_region AMOT 2 49836 4.01316E-5 24918 0 4.54587E-5